Aliases: GalNAc-T3, HHS, HFTC.
GALNT3 (polypeptide N-acetylgalactosaminyltransferase 3) is named by 1 disorder entry.
The pinned ai-gene-review ingest carries 0 core-function terms for GALNT3; an upstream review (Golgi polypeptide GalNAc-transferase that O-glycosylates FGF23) is being added and will appear after the next ingest refresh.
Hyperphosphatemic Familial Tumoral Calcinosis types GALNT3 as causative with germline variants, and ClinGen rates it definitive for the GALNT3 subtype. The gene sits on Biallelic GALNT3 Loss of Function.
Underlined values are claims re-computed from the knowledge base each time this page is built. The tables below are the source of truth.
Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.
| Disorder | Relationship | Where the gene appears |
|---|---|---|
| Hyperphosphatemic Familial Tumoral Calcinosis |
causative
germline
loss of function
CLINGEN: definitive (HFTC1)
|
mechanism: Biallelic GALNT3 Loss of Function
subtype: HFTC1
scoped to subtype: HFTC1
|
An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.
| ClinGen disease | MOI | Classification | dismech entry |
|---|---|---|---|
| tumoral calcinosis, hyperphosphatemic, familial, 1 MONDO:0100252 | AR | Definitive 2024-02-06 |
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.